Related Experiment Video
Updated: Mar 10, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Heterogeneous Diagnoses Underlying Radial Ray Anomalies
Rosalba Sevilla-Montoya1, Mónica Aguinaga2, Alejandro Martínez2
1Departamento de Genética, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, C.P 11000, Torre de investigación 2°, Piso, Ciudad de México, CP 11000, Mexico. rosalbasevilla@hotmail.com.
Radial Ray Anomaly (RRA) in newborns has diverse causes, including genetic conditions like Fanconi anemia. Early diagnosis through genetic testing is crucial, as associated defects significantly increase perinatal mortality.
Area of Science:
- Perinatology
- Medical Genetics
- Developmental Biology
Background:
- Radial Ray Anomaly (RRA) is a congenital upper limb defect with varied etiologies.
- Understanding the spectrum of diagnoses associated with RRA is critical for perinatal care.
Purpose of the Study:
- To review perinatal RRA cases at a tertiary care center.
- To identify the heterogeneous diagnoses and outcomes in RRA patients.
Main Methods:
- Retrospective review of 15 RRA cases over 18 months.
- Prenatal and postnatal detection rates were analyzed.
- Karyotyping and chromosomal breakage analysis were performed for diagnostic evaluation.
Main Results:
- Fifteen RRA cases were identified with diverse diagnoses including trisomy 18, monogenic diseases, and Fanconi anemia.
- High perinatal mortality (47%) was observed, particularly in cases with multiple defects.
- Fanconi anemia was diagnosed in four RRA patients.
Conclusions:
- Comprehensive assessment including ultrasound, clinical, genetic, cytogenetic, and molecular testing is essential for RRA patients.
- Chromosome breakage testing is recommended to rule out Fanconi anemia in RRA cases.
- Early and accurate diagnosis impacts management and prognosis for RRA.
Related Concept Videos
01:20Imaging Studies for Cardiovascular System III: X-Ray
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
01:11Assessment of radial pulse
The radial pulse, located at the wrist, is often the preferred site for assessing peripheral pulse because of its accessibility and dependability. The process of determining the radial pulse involves several steps:
01:25Assessment of apical radial pulse
The A-R pulse assessment involves simultaneous evaluation of the apical and radial pulses. When the apical and radial pulse rates vary, this assessment helps identify a pulse deficit.
Pre-Procedural Preparation
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy